title: A new syndrome of familial short stature, small hands, valvular heart disease and a characteristic facies.
abstract: A mother and two daughters are presented with severe short stature with disproportionately short limbs, small hands, clinodactyly, valvular heart disease and a distinctive facies with ptosis, high-arched palate and crowded dentition. This appears to be a previously undescribed syndrome, probably inherited as an autosomal dominant trait.
authors.affiliation: Medical Genetics Unit, Children's Hospital, Sydney, Australia.
authors.forename: F A
authors.initials: FA
authors.lastname: Collins
authors.forename: M W
authors.initials: MW
authors.lastname: Partington
authors.forename: D
authors.initials: D
authors.lastname: Mulcahy
authors.forename: G
authors.initials: G
authors.lastname: Turner
mesh_terms: D000293:Adolescent; D000328:Adult; D001827:Body Height / Q000235:genetics*; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D006226:Hand Deformities / Q000150:complications / Q000235:genetics*; D006349:Heart Valve Diseases / Q000150:complications / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D008945:Mitral Valve Prolapse / Q000150:complications / Q000235:genetics; D010375:Pedigree; D011666:Pulmonary Valve Stenosis / Q000150:complications / Q000235:genetics; D013577:Syndrome